Rare Disease Library

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI

Cerebrofacioarticular syndrome

Van Maldergem syndrome

Cerebrooculonasal syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Oculofaciocardiodental syndrome

OFCD syndrome · Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome

Oculootodental syndrome

OOD

Orofaciodigital syndrome

OFD · Oral-facial-digital syndrome

Otodental syndrome

Globodontia · Otodental dysplasia

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Spinocerebellar ataxia type 7

Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome

Trichodental syndrome

Kersey syndrome

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome